Treacher-Collins Syndrome–A Challenge For Anaesthesiologists

Summary Treacher-Collins syndrome is a rare congenital disease known to be associated with a difficult airway and presents some of the most hazardous and difficult challenges that anaesthetists may encounter within the entire practice of paediatric anesthesia. Successful anaesthetic management in a case of Treacher-Collins syndrome posted for cleft palate repair is presented in this report.


Introduction
Treacher-Collins syndrome is also referred to as mandibulo-facialdysostosis is a highly complex disease process. It is a congenital malformation of first and second bronchialarch,inherited asautosomaldominant trait. 1 The basic etiology is obscure. Ida Maan in 1943 mentioned that a disturbance in division and development ofthe mesodermalbone tissue at the time of the fifth week of foetal life probably initiates this syndrome. 2 It is seen mostly among the poorer class of people.
The syndrome consists of congenitaland familial deformities of the ear, eyes, maxilla and mandible. It is often associated with deafness due to meatal atresia and malformation of the middle andinner ear. 3 Cleft lip and palate is present in up to 35% of patients, 30-40% have congenital palatopharyngeal incompetence, and are associated with other malformations of cardiovascular system. During the post operative period, pharyngeal and laryngeal edema may develop.Even respiratory distress and sudden death has been reported. 4

Case Report
A boy aged 5 years weighing 10kg, diagnosed as Treacher-Collins syndrome was presented for surgery for cleft palate repair. On evaluation the patient was found to have hypoplasia of facial bones (mandible, maxilla and cheek), down sloping palpebral fissures, colobomaof thelower eyelids,scanty lowereye lashes, microtia with hearing loss and micrognathia and retrognathia ( Fig.1,2). On airway assessment mouth openingwas adequate and he had a Mallampatti class  4 airway. Neck movements were normal andspine was normal. Preoperative blood investigations showed Hb12gm%, BUN, creatinine and electrolytes were normal. Chest X-ray and ECG were normal. In view of the difficult airway, relatives were informed that the technique might fail and tracheostomy consent was taken. A trolley for difficult airway was kept ready including LMA,retrograde intubationset, tracheostomy set and emergencycricothyroidotomy set.
The patient was kept nil by mouth for six hours. Age was a limitation for awake intubation. We planned to go for smooth induction with a deeper plane of anesthesia, avoiding hypoventilation and trauma to the airway. The patient was premeditated with atropine 0.2mgIV given to reduce the secretions.Sedatives were avoided as we anticipated a difficult airway. Dexamethasone 0.2mg.kg -1 IV was given. The patient was preoxygenated with 100% oxygen for five minutes. Induction was done with IV propofol 2mg.kg -1 with incrementaldose of sevoflurane. Initially mask ventilation seemed to be difficult due to a poor mask fit but improved to some extent after an orophrayngeal airway insertion and gauze packingof the space between the mask and the cheek. But even with this we could not ventilate adequately. Then one assistant was asked to lift forward both the angles of thejaw, andonly then thepatient could be ventilated.After induction, a gentle laryngoscopy showed a Class IV of glottis visualization as per CormackLehane classification. Now taking the patient deeper, another assistant was asked to give a very good backward upward rightward pressure (BURP). With this maneuver laryngoscopy showed a Cormack Lehane of glottis visualization as Class III. Now we were able to intubate with a No. 4 uncuffed RAES endotrachealtube with the help of an appropriate sized stylet (Fig.3). Later the tube was secured properly and the patient was handed over to the surgeons.
Further anaesthesia was maintained with N 2 O + O 2 + sevoflurane and pancuronium with a supplementation offentanyl 2µg.kg -1 IV for analgesia. The patient was monitored with pulse oximetry, EtCO2, NIBP, ECG, and precordialstethoscope throughout the surgical period which lastedfor about two hours. The oxygen saturation, heart rate, BP, EtCO2were monitored and maintained .At the end of the surgery ,the patient was reversed with neostigmine 0.05mg.kg -1 and atropine 0.02mg.kg -1 . Asmoothextubation was done once the child was fully awake. The patient was kept under observation and the postoperative periodwas uneventful. The patient was discharged after 7 days without any complication.

Discussion
Patients with Treacher-Collinssyndrome present a serious problem to anaesthetists in maintaining their airway, as upper airway obstruction and difficult tracheal intubation due to severe facialdeformity make such a task difficult. Because of retrognathia, the airway management of these patients is often challenging. 5,6 The cause for difficult intubation in such cases is due to relative macroglossia as a consequence of skeletal abnormalities. This reduces the space available for manipulation and insertion of the endotracheal tube (ETT). The associated abnormalities may be limited mouth opening, reduced extension of the head on the neck, hypoplastic mandibleand limitedforward movement of hyoid. Often multiple mechanisms may be present in an individual case. 7-10

Fig 3 Intubation with a no.4 uncuffed RAES endotracheal tube
Treacher-Collins syndrome is caused by a defective protein called treache. 11 More than half of the cases are thought to be due to new mutations.Because there is no family history of the disease, the condition may greatly vary in severity from generation to generation. Treacher Collins syndrome is a congenital deformity mainly of theface, andfrequently ofother partsof body. It is characterized by hypoplasia of the facial bones, especially the zygoma and mandible. Facial clefting causes the hypoplastic appearance, with possible deformities of the ear, orbital, midface and lower jaw regions. The clinical appearance is a result of zygoma (malar bone)failingto fuse withthe maxilla,frontal, and temporal bones. 12 The main signs of syndrome, 2 1 -Skeleton-(a) Skull-square forehead, flatteningof the occipito-parietal region, lack of angulations in the naso -frontalregion and longoccipito-frontaldiameter, asymmetry of the skull caused by maldevelopment of the internalstructure of the skull, such as petrosal bone. b) Facial bones-Malars under developed with small ridges, lack of zygomatic arch, smallantra andin some cases antra disproportionally large to the small malar bone, hypertrophic nasal septum, hypertrophic maxillary arch, frequently highly arched palate, may be associated with cleft palate, malgrowingteeth, mandible hypoplastic, retruded with angle of jaw obtuse which frequently gives an open bite. c) Others-May have in some cases, fused cervical vertebrae, abnormal costo-sternal structure, such as pectus excavates, long metacarpal and metatarsal bones.
2-Eye-Narrow interpalpebral spaces, most frequently running obliquely laterally, but occasionally medially. Notching on the outerportion ofthe lower eyelid mostly, and occasionally on the upper eyelid. The eyelashes are absent or growingirregularly in two or three rows. Absence of lachrymal glands, lateral deviation or protrusion of the eyeball, congenital ptosis.
3-Ears-Congenital absence of the external ear, absence or occlusion of auditorymeatus, deformity of the ear, with partial or complete deafness. 4-Mouth-Mostly there is macrostomia and in some casesmicrostomia, occasionally undeveloped tongue.

5-Atresia of pharyngeal ring.
6-Cheeks-Blind fistulae on the cheeks and rarely "tongue -shaped" growth of hair on the cheeks on the lateral side of face. 7-Nose-In the majority of cases it is big with a very short columella,narrow naresand smalllateralcartilages.
9-Mentaldevelopment of children with this syndrome-Typically grows to become normalfunctioning adults of normalintelligence.
Our patient was a classical case of Treacher-Collins syndrome with almost allthe features with a significant airway distortion, because of which we had expected difficulty in maintainingairway as wellas difficult trachealintubation.
Various techniques have been described in management of such patients. These includes; direct laryngoscopy, intubation with a flexible fiberoptic bronchoscope, light wand, laryngeal maskairway, retrograde intubation technique and tracheotomy can also be employed. 13 In awake, fiberoptic intubation for a recognized difficult airway in the pediatric population is challenging, if not impossible secondary to the lackof cooperation by the sedated child. Some alternatives to direct laryngoscopy include blind light wand technique, blind nasal intubation, and oralor nasalfiberoptic intubation; however these techniques are often more difficult in the pediatric population.
These difficultiesmight beavoided byfirst attempt-ing intubation through aLaryngealMaskAirway (LMA) rather than direct laryngoscopy. However, the greatest challengeencountered whenintubatingthroughan LMA is howto removethe LMA without dislodgingthe ETT from thetrachea. This difficulty isunique to the pediatric anaesthesiologist, because the lengths of an ageappropriate pediatric ETT and LMA are similar, and the proximal end of the ETT tends to disappear in to the LMA once the ETT has passed through the vocal cords. This makes it difficult to safely remove the LMA without dislodgingthe ETT. One can circumvent this problem by extendingthe length of the pediatric ETT. However, the paediatric patients with Treacher-Collins syndromehave the posteriorly protruded tongue which displaces the LMA, makes the glottis move considerably anterior and interfere with the attempts to enter the trachea with a bougie. Further downward displacement of the epiglottis can alsoimpair theintubation technique through LMA. The same is true for light wand guided intubation. 5,14,15 Though the success rate with retrograde tracheal intubation ishigher, itis more uncomfortable anda traumatic experience to the awake patient. This is also an uneasy approach in pediatric patients as it needs a lot of understanding and cooperation from patient.
Comparatively our conventional approach with additionalmaneuversseems abetter option,and though it is less predictable, it is without complications. In our hospital, as the above facilities were not available, we planned to go for smooth inductionwith adeeper plane of anaesthesia with direct laryngoscopy.
The three most important modifications we used in this technique were:  Since we had expected difficult ventilation and intubation in this patient, we preferred to keep the patient spontaneously breathingwith no musclerelaxation but in a deeper plane of anaesthesia to give us ample time to attempt intubation.
 The forward lift of both the anglesof the mandible by an assistant which to greaterextent overcomethe main cause of difficult ventilation in Treacher-Collins syndrome, the retrognathia.  And finally intubation was facilitated by a very good backward upward and rightward pressure (BURP) by an assistant which makes Cormack Lehane of glottis visualization as Class III.
Anesthesiology is a field of challenges, especially whenyou encounterdifficult toventilate anddifficult to intubate scenario. Hence every pediatric anaesthesiologist should bewell preparedwith the various techniques of the difficultairway algorithm before venturing into a case. This case of Treacher-Collins syndrome illustrates how a modified conventional approach can still be a very good and gold standard approach when other newer techniques are not available.